A55S (p.Ala55Ser) variant of NIPBL (Nipped-B-like protein)
A55S (p.Ala55Ser) in NIPBL (Nipped-B-like protein) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
A55S (p.Ala55Ser) variant details
- p.Ala55Ser
- gnomAD 5-36955570-G-T
- Missense
- Variant Prioritization Score for Impact Estimate 0.294
- REVEL 0.22
- ESM-1b 0.00
- AlphaMissense 0.09
- CADD 21.20
- PolyPhen-2 0.00
- SIFT 0.67
- Most common in the East Asian population (allele frequency 2.5e-05)
- Structural context available
- Literature evidence available